Diagnostic workup for suspected Prader-Willi syndrome

DNA: deoxyribonucleic acid; SNRPN: small nuclear ribonucleoprotein polypeptide N gene; PWS: Prader-Willi syndrome; c/w: consistent with this diagnosis; IC: imprinting center; MLPA: multiplex ligation-dependent probe amplification; FISH: fluorescence in situ hybridization; SNPs: single-nucleotide polymorphisms.

* FISH can also be used but is not preferred; FISH can diagnose deletion without detail of size.

¶ Uniparental disomy analysis is ideally performed with parental karyotype but can also be done with microsatellite probes or SNPs of parents and child.

Modified from: Driscoll DJ, Miller JL, Schwartz S, et al. Prader-Willi Syndrome, 1998 [Updated 2017 Dec 14]. In: Adam MP, Everman DB, Mirzaa GM, et al. (Eds), GeneReviews™ [Internet], University of Washington, Seattle 1993-2022. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1330/ (Accessed on October 27, 2022).

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Diagnostic workup for suspected Prader-Willi syndrome